Canonical Allele Identifier: CA339964766
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943246C>A , CM000663.2:g.42943246C>A GRCh38
NC_000001.10:g.43408917C>A , CM000663.1:g.43408917C>A GRCh37
NC_000001.9:g.43181504C>A NCBI36
NG_008232.1:g.20931G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.94G>T MANE Select ENSP00000416293.2:p.Val32Phe
ENST00000674765.1:c.94G>T ENSP00000501811.1:p.Val32Phe
ENST00000675112.1:n.117G>T
ENST00000372500.4:c.19-12040G>T ENSP00000361578.4:n.19-12040G>T
ENST00000415851.6:n.311G>T
ENST00000426263.7:c.94G>T ENSP00000416293.2:p.Val32Phe
ENST00000625233.2:n.302G>T
ENST00000628173.1:n.313G>T
ENST00000630287.2:c.94G>T ENSP00000486694.1:p.Val32Phe
ENST00000630821.1:n.311G>T
NM_006516.2:c.94G>T NP_006507.2:p.Val32Phe
NM_006516.3:c.94G>T NP_006507.2:p.Val32Phe
NM_006516.4:c.94G>T MANE Select NP_006507.2:p.Val32Phe